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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects Zhao, Yingjie; Diacou, Alexander; Johnston, H Richard; Musfee, Fadi I; ... Morrow, Bernice E 2020
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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Ansar, Muhammad; Ranza, Emmanuelle Nathalie; Shetty, Madhur; Paracha, Sohail A; ... Antonarakis, Stylianos 2020
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De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; ... Campeau, Philippe M 2020
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A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure Sung, Yun Ju; de Las Fuentes, Lisa; Winkler, Thomas W; Chasman, Daniel I; ... Morrison, Alanna C 2019
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Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31 Wang, Heming; Nandakumar, Priyanka; Tekola-Ayele, Fasil; Tayo, Bamidele O; ... Zhu, Xiaofeng 2019
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RINT1 Bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities Cousin, Margot A; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; ... Klee, Eric W 2019
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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice Coutton, Charles; Martinez, Guillaume; Kherraf, Zine-Eddine; Amiri-Yekta, Amir; ... Ray, Pierre F 2019
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Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2 Guo, Tingwei; Diacou, Alexander; Hiroko, Nomaru; McDonald-McGinn, Donna M; ... Morrow, Bernice E 2018
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Gueneau, Lucie; Fish, Richard; Shamseldin, Hanan E.; Voisin, Norine; ... Reymond, Alexandre 2018
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A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure Sung, Yun J.; Winkler, Thomas W.; de las Fuentes, Lisa; Bentley, Amy R.; ... Chasman, Daniel I. 2018
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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane 2018
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Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort Vinuela Rodriguez, Ana; Brown, Andrew Anand; Buil Demur, Alfonso Alberto; Tsai, Pei-Chien; ... Small, Kerrin S 2018
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Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia Grimaldi, Mariagrazia; Karaca Emre, Melis; Latini, Livia; Brioudes, Estelle; ... Maechler, Pierre 2017
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; ... Valente, Enza Maria 2017
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU Korff, Christian; Bottani, Armand 2017
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Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus Odhams, Christopher A.; Cortini, Andrea; Chen, Lingyan; Roberts, Amy L.; ... Cunninghame Graham, Deborah S. 2017
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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli Emilia; ... Sharp, Andrew James 2016
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed 2016
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien 2016
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